Stephen G. Kaler, M.D.

Molecular Medicine Program

Section on Translational Neuroscience

National Institute of Child Health & Human Development

National Institutes of Health, Bethesda, MD

Studies on Menkes Disease

Menkes disease causes premature death

• Death typical by 4 months to 3 years of age

>90% of untreated patients die by age 3

51.4% of “late” treated (older than 1 month)

27.9% of “early” treated (younger than 1 month)

• Currently available treatment:

Daily copper injections for several years

Early Copper Treatment is Sometimes Very Effective

1998 2013

President Obama with Protocol 09-CH-0059 Subject #34 (Campaign stop in Colorado, September 2012)

ATP7A del exon 3-7

Brain-directed gene therapy with adeno-associated virus:A promising new direction the Kaler Laboratory is pursuing

Molecular Therapy (2012)